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Hemophilia

Background


Hemophilia is a rare bleeding disorder in which the blood does not clot properly. Clotting factors are different proteins in the blood that help to stop bleeding. People with hemophilia have either low levels of these clotting factors or none at all. Hemophilia may cause prolonged bleeding after an injury, surgery or having a tooth pulled. Bleeding may also occur internally into the joints, muscles, brain or other organs of the body.

 

The two main types of hemophilia are A and B. Hemophilia A, also known as classic hemophilia, occurs when a person is missing or has low levels of clotting factor VIII (8). It is the most common type of hemophilia affecting nine out of 10 people with the disorder. A person with hemophilia B, also known as Christmas disease, is missing or has low levels of clotting factor IX (9). Both forms occur more commonly in males than females with one in 5,000 males born each year with hemophilia.

 

Causes


Hemophilia is usually inherited, which means the disorder is caused by a defect in one of the genes that determines how the body makes blood clotting factor VIII or IX. Only the X chromosome carries the genes related to these clotting factors. A female has two X chromosomes, while males have one X and one Y chromosome. Therefore, a male that has a defect on his X chromosome will have hemophilia. However, a female must have the defect on both of her X chromosomes to have hemophilia. This occurs very rarely in females and is why hemophilia is more common in males. 

 

Although rare, hemophilia can be acquired, which means a person develops the disorder over time. This may occur if a person forms antibodies that attack and prevent the clotting factors from working.

 

Symptoms


The major symptoms of hemophilia are excessive bleeding and easy bruising. Bleeding may occur either externally on the body’s surface or internally, inside the body.

 

External bleeding may result in:

 

  • Bleeding in the mouth from a cut, bite or losing a tooth.
  • Nosebleeds for no reason.
  • Heavy bleeding from a minor cut.
  • Bleeding that resumes from a clot that stopped for a short time.

 

Internal bleeding may result in:

 

  • Blood in the urine.
  • Blood in the stool.
  • Large bruises.
  • Bleeding in the joints such as knees and elbows.
  • Bleeding in the brain.

 

Diagnosis


Hemophilia is diagnosed by reviewing family history, physical exam and ordering specific blood tests. Screening tests and clotting factor tests are used to determine how long it takes for the blood to clot and whether levels of clotting factor are either low or missing. These tests will determine if a person has hemophilia, what type of hemophilia and if it is severe. Hemophilia A and B are classified as mild, moderate or severe depending on the amount of clotting factor VIII or IX in the blood.

 

Complete blood count – This test measures the amount of hemoglobin and the size and number of red blood cells, white blood cells and platelets. Hemoglobin is the red pigment inside the red blood cell that carries oxygen. A person with hemophilia with heavy bleeding or bleeds for a long time may have low levels of hemoglobin and red blood cells.

 

Activated Partial Thromboplastin Time (APTT) test – How long it takes for blood to clot is measured by the level of clotting factors. If the levels are low it will take a long time for the blood to clot. The results of this test will show a longer clotting time if a person has hemophilia.

 

Prothrombin Time (PT) test – This test measures the time it takes for the blood to clot but does not measure the level of the clotting factors for hemophilia. Therefore, the results of this test will be normal if patients have hemophilia.

 

Fibrinogen test – Fibrinogen is another name for clotting factor I (1) and this test assesses the body’s ability to form a blood clot. It is often ordered if a person has an abnormal PT test.

 

Clotting factor tests – These tests are often called factor assays and are required to diagnose a bleed disorder. The type of hemophilia and severity are determined with this test.

 

Treatment

 

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Replacing the missing blood clotting factors is the best way to treat hemophilia by allowing the blood to clot properly. The two types of clotting factor concentrates available are:

 

Plasma Derived – Plasma is the liquid part of the blood. The clotting factors are separated from other parts of the plasma. They are purified and made into a freeze-dried product. The product is tested and treated to kill any potential viruses before it is packaged for use.

 

Recombinant – This concentrate is genetically engineered using DNA and contains the clotting factors without any plasma or albumin. Therefore this treatment does not contain any risk of transmitting viruses.

 

These therapies can be used when a person is bleeding or on a regular basis to prevent bleeds. Many people with hemophilia can give their own clotting factor at home. This is important because that means bleeds can be treated quicker, resulting in less serious bleeding and fewer side effects.

 

Other therapies that can be used are DDAVP and Amicar.

 

Side effects


Side effects are rare with clotting factor therapy but can include allergic and anaphylactic symptoms, hives, chest tightness, rash, pruritus (itching) and edema. If these reactions occur, the infusion should be stopped, and appropriate treatment should be given as required.

 

Resources


There are many resources and organizations available to help, providing support, advocacy and information:

 

National Hemophilia Foundation
www.hemophilia.org

 

Hemophilia Federation of America
www.wfh.org

 

References


Centers for Disease Control and Prevention. http://www.cdc.gov/NCBDDDD/hemophilia.html. Accessed December 2, 2011.

 

National Institutes of Health. NHLBI. http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/. Accessed December 2, 2011.

 

Genetics Home Reference. Hemophilia. http://ghr.nlm.nih.gov/condition/hemophilia. Accessed December 2, 2011.

 

 

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